1. Hemophilia
2. Some symptoms are bleeding into a joint of muscle that causes pain and swelling, abnormal bleeding after an injury, easy bruising, constant noise bleeding, and sometimes blood in urine.
3. The disease usually is detected when they are babies or very young kids.
4. Frequency of carriers of this disease in the population?
~1- 5,000- 10,000 boys get Hemophilia.
5. Frequency of disease in the population
~1-5,000-10,000
6. Mode of inheritance. Is disease dominant, recessive, sex-linked or due to non-disjunction?
~ This gene is a recessive gene and it is sex-linked.
7. Is disease autosomal ( on the first 22 pairs of chromosomes), or is it on the X-linked or sex chromosomes?
~Hemophilia is X-linked.
8. What chromosome number has been determined to carry this gene?
~Hemophilia is an X-linked genetic disorder, which means that it's passed from mother to son on the X chromosome. If the mother carries the gene for hemophilia on one of her X chromosomes, each of her sons will have a 50% chance of having hemophilia
9. What treatment, if any, is used for this disease? How does the treatment affect the disease?
The primary treatment for moderate-to-severe hemophilia is factor replacement therapy, which replaces the blood's deficient clotting factor. You may receive the treatment to stop bleeding or to prevent bleeding from starting. Regular infusions of clotting factor several times a week reduces the risk of bleeding. You may get infusions at home. Your health care provider may also prescribe pain relievers.
10. What is the prognosis or outlook for your baby's recovery?
Most people with hemophilia can manage their condition and lead normal lives. In people who do not receive factor replacement therapy, however, complications include the destruction of bones and joints, life-threatening cysts, bleeding in the brain, gangrene, bleeding into muscles causing damage to nerves, long-term bruising, and anemia. People with hemophilia still can live normal lives with normal life expands as long as they use the correct medicine.
11. What future techniques might be used to correct or eliminate your baby's disease?
Pre-natal screening, genetic testing, genetic counseling or egg selection (in IVF) may be used to reduce the number of births of children with the disease. Advancements in stem cell treatment, genetic manipulation or medications may bring about a cure for the condition.
12. Discuss in detail what difficulties, if any, a parent would encounter in raising a child with this disease.
When a parent is raising a child with hemophilia there are many concerns to worry about. The first one is if the child gets cuts and they don't have the medical attension they can bleed to death. The Parents have to live there lives in fear every day because if they child gets a paper cut they can die.
13. Include diagrams of your child or factors related to your disease.
2. Some symptoms are bleeding into a joint of muscle that causes pain and swelling, abnormal bleeding after an injury, easy bruising, constant noise bleeding, and sometimes blood in urine.
3. The disease usually is detected when they are babies or very young kids.
4. Frequency of carriers of this disease in the population?
~1- 5,000- 10,000 boys get Hemophilia.
5. Frequency of disease in the population
~1-5,000-10,000
6. Mode of inheritance. Is disease dominant, recessive, sex-linked or due to non-disjunction?
~ This gene is a recessive gene and it is sex-linked.
7. Is disease autosomal ( on the first 22 pairs of chromosomes), or is it on the X-linked or sex chromosomes?
~Hemophilia is X-linked.
8. What chromosome number has been determined to carry this gene?
~Hemophilia is an X-linked genetic disorder, which means that it's passed from mother to son on the X chromosome. If the mother carries the gene for hemophilia on one of her X chromosomes, each of her sons will have a 50% chance of having hemophilia
9. What treatment, if any, is used for this disease? How does the treatment affect the disease?
The primary treatment for moderate-to-severe hemophilia is factor replacement therapy, which replaces the blood's deficient clotting factor. You may receive the treatment to stop bleeding or to prevent bleeding from starting. Regular infusions of clotting factor several times a week reduces the risk of bleeding. You may get infusions at home. Your health care provider may also prescribe pain relievers.
10. What is the prognosis or outlook for your baby's recovery?
Most people with hemophilia can manage their condition and lead normal lives. In people who do not receive factor replacement therapy, however, complications include the destruction of bones and joints, life-threatening cysts, bleeding in the brain, gangrene, bleeding into muscles causing damage to nerves, long-term bruising, and anemia. People with hemophilia still can live normal lives with normal life expands as long as they use the correct medicine.
11. What future techniques might be used to correct or eliminate your baby's disease?
Pre-natal screening, genetic testing, genetic counseling or egg selection (in IVF) may be used to reduce the number of births of children with the disease. Advancements in stem cell treatment, genetic manipulation or medications may bring about a cure for the condition.
12. Discuss in detail what difficulties, if any, a parent would encounter in raising a child with this disease.
When a parent is raising a child with hemophilia there are many concerns to worry about. The first one is if the child gets cuts and they don't have the medical attension they can bleed to death. The Parents have to live there lives in fear every day because if they child gets a paper cut they can die.
13. Include diagrams of your child or factors related to your disease.